Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Cataract |
ORPHA:79238 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... |
OMIM:143200 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctivitis, Hemophag... |
OMIM:603552 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy |
OMIM:204000 |
Mevalonic Aciduria |
|
Splenomegaly, Cataract |
ORPHA:29 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Cone-Rod Dystrophy 16 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:614500 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, S... |
ORPHA:290 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity, Abnormality of the tonsils |
ORPHA:93476 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Immunodeficiency, Common Variable, 2 |
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Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Elliptocytosis 1 |
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Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Immunodeficiency 109 With Lymphoproliferation |
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Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Jaundice, Increased mean corpu... |
OMIM:194380 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
X-Linked Sideroblastic Anemia |
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Splenomegaly, Anemia |
ORPHA:75563 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Glycogen Storage Disease Ixb |
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Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Immunodeficiency, Common Variable, 1 |
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Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Cholestasis-Lymphedema Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Pfapa Syndrome |
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Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Cholesteryl Ester Storage Disease |
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Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Portal Hypertension, Noncirrhotic, 2 |
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Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Isolated Aniridia |
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Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Splenomegaly, Pancytopenia |
OMIM:614979 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Sea-Blue Histiocytosis |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly |
ORPHA:664 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hepatoportal Sclerosis |
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Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Griscelli Syndrome |
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Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Immunodeficiency 7 |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Aniridia 3 |
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Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Harderoporphyria |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Cold Agglutinin Disease |
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Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Multiple Sulfatase Deficiency |
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Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Osteopetrosis, Autosomal Dominant 3 |
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Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Alpha-Mannosidosis, Adult Form |
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Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
Glycogen Storage Disease Ixa1 |
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Splenomegaly, Hepatomegaly |
OMIM:306000 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Proteus-Like Syndrome |
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Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal... |
ORPHA:2969 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... |
OMIM:269200 |
Immunodeficiency 32B |
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Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Elevated hepatic iron concentration |
ORPHA:254704 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Wolman Disease |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Myelofibrosis |
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Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Gaucher Disease, Type I |
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Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:235555 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Sickle Cell Disease |
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Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ... |
OMIM:617388 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Splenomegaly, Leukocytosis |
OMIM:618042 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
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Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosis |
OMIM:608885 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Corneal opacity |
ORPHA:93474 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjunctival i... |
ORPHA:53035 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma |
OMIM:231005 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... |
OMIM:210250 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... |
OMIM:610199 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract |
OMIM:620185 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... |
ORPHA:567983 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |